leukoencephalopathy with vanishing white matter
Findings
No curated finding names leukoencephalopathy with vanishing white matter yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A new leukoencephalopathy, the CACH syndrome (Childhood Ataxia with Central nervous system Hypomyelination) or VWM (Vanishing White Matter) was identified on clinical and MRI criteria. Classically, this disease is characterized by (1) an onset between 2 and 5 years of age, with a cerebello-spastic syndrome exacerbated by episodes of fever or head trauma leading to death after 5 to 10 years of disease evolution, (2) a diffuse involvement of the white matter on cerebral MRI with a CSF-like signal intensity (cavitation), (3) a recessive autosomal mode of inheritance, (4) neuropathologic findings consistent with a cavitating orthochromatic leukodystrophy with increased number of oligodendrocytes with sometimes "foamy'' aspect.
Definition from the Mondo Disease Ontology (MONDO:0800448), read 2026-09-29. CC BY 4.0.
Features
55 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Brain imaging abnormalityHPOHP:0410263
- Very frequent (80% to 99% of cases)
- Dysmyelinating leukodystrophyHPOHP:0006978
- Very frequent (80% to 99% of cases)
- Atrophy/Degeneration affecting the brainstemHPOHP:0007366
- Frequent (30% to 79% of cases)
- Cerebellar atrophyHPOHP:0001272
- Frequent (30% to 79% of cases)
- Cerebellar vermis atrophyHPOHP:0006855
- Frequent (30% to 79% of cases)
- Cerebral atrophyHPOHP:0002059
- Frequent (30% to 79% of cases)
Show the remaining 43
- SeizureHPOHP:0001250
- Frequent (30% to 79% of cases)
- SpasticityHPOHP:0001257
- Frequent (30% to 79% of cases)
- Truncal ataxiaHPOHP:0002078
- Frequent (30% to 79% of cases)
- Abnormal pons morphologyHPOHP:0007361
- Occasional (5% to 29% of cases)
- ApathyHPOHP:0000741
- Occasional (5% to 29% of cases)
- Arthrogryposis multiplex congenitaHPOHP:0002804
- Occasional (5% to 29% of cases)
Genes
5 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- EIF2B2HGNC:3258
- Definitive · Illumina · Autosomal recessive · 2019
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · G2P · Autosomal recessive · 2019
- EIF2B5HGNC:3261
- Definitive · Myriad Women's Health · Autosomal recessive · 2018
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
- EIF2B1HGNC:3257
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
- EIF2B3HGNC:3259
Where it sits
- A kind of
- Narrower terms (9)
- congenital or early infantile CACH syndrome
- juvenile or adult CACH syndrome
- late infantile CACH syndrome
- leukoencephalopathy with vanishing white matter 1
- leukoencephalopathy with vanishing white matter 2
- leukoencephalopathy with vanishing white matter 3
- leukoencephalopathy with vanishing white matter 4
- leukoencephalopathy with vanishing white matter 5
- leukoencephalopathy, progressive, with ovarian failure
Other names
2 names
Resolves to: leukoencephalopathy with vanishing white matter
- Also called
- childhood ataxia with diffuse central nervous system hypomyelinationmyelinosis centralis diffusa